ClinVar

NM_198129.4(LAMA3):c.916G>T (p.Glu306Ter)

Gene:

LAMA3:laminin subunit alpha 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18q11.2

Genomic location:

• Chr18: 23753781 (on Assembly GRCh38)
• Chr18: 21333745 (on Assembly GRCh37)

Preferred name:

NM_198129.4(LAMA3):c.916G>T (p.Glu306Ter)

HGVS:

• NC_000018.10:g.23753781G>T
• NG_007853.2:g.69184G>T
• NM_001127717.4:c.916G>T
• NM_001302996.2:c.916G>T
• NM_198129.4:c.916G>TMANE SELECT
• NP_001121189.2:p.Glu306Ter
• NP_001289925.1:p.Glu306Ter
• NP_937762.2:p.Glu306Ter
• NC_000018.9:g.21333745G>T
• NM_000227.3:c.-119264G>T
• NR_130106.2:n.1147G>T

This HGVS expression did not pass validation

Protein change:

E306*

Links:

dbSNP: rs771405735

NCBI 1000 Genomes Browser:

rs771405735

Molecular consequence:

• NR_130106.2:n.1147G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001127717.4:c.916G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001302996.2:c.916G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_198129.4:c.916G>T - nonsense - [Sequence Ontology: SO:0001587]